본문 바로가기
KERD
논문KCI 등재

Diagnostic Usefulness of the Janus Kinase 2 Mutation in non­BCR/ABL Myeloproliferative Disorders

Jiyoon Park|안정열|박필환|서일혜|Se Hoon Park|Eun Kyung Cho|Jae Hoon Lee|방수미|Soo Jin Yoo|Eun Mi Nam|Dong Bok Shin
대한내과학회 (The Korean Association Of Internal Medicine)|2006.12|The Korean Journal of Internal Medicine|제21권 제4호|pp. 219-224

2

조회

0

다운로드

1

인용

0

참고문헌

키워드

Polycythemia veraEssential thrombocythemiaMyeloproliferative disordersJanus kinase 2 mutationChronic idiopathic myelofibrosis
주제분류내과학

초록

Background : We investigated the Janus kinase 2 (JAK2) mutation and its diagnostic value in patients suffering with non BCR/ABL myeloproliferative diseases (nMPD) or other reactive conditions. Methods : We reviewed the clinical records of 83 patients who underwent bone marrow (BM) examinations with suspect of nMPD. The diagnoses of nMPD were made based on the WHO criteria since 2001 and the PVSG criteria before 2001. The JAK2 mutation was examined by PCR in 54 patients whose BM samples were available. Results : The JAK2 mutation was detected in 25 patients (46%); 12 of 26 patients with essential thrombocythemia (ET), 9 of 12 patients with polycyhtemia vera (PV), one of 7 patients with chronic idiopathic myelofibrosis (CIM) and one patient with unclassifiable MPD. Additionally, JAK2 mutation was detected in each one patient with secondary polycythemia and reactive thrombocytosis. These two patients and two other patients among the JAK2 mutated ET did not meet the WHO PV criteria due to their initial low hemoglobin levels. These patients had liver cirrhosis and hypersplenism due to Budd-Chiari syndrome (1), gastrointestinal bleeding (1) or the initial hemoglobin level was slightly below the level as provided by the criteria, but the level showed a rising pattern despite cytoreductive therapy (2). With the results of the JAK2 mutation available, 4 patients’ disease could be re-diagnosed as PV. Finally, the positive rate of the JAK2 mutation was 81% in PV, 48% in ET and 14% in CIM. The presence of JAK2 mutation closely correlated with PV (p=0.001), leukocytosis (p=0.001) and an increased cellularity of BM (p=0.024). Conclusions : The JAK2 mutation may help differentiate nMPD from secondary cytosis. Therefore, it should be incorporated into the guidelines for the nMPD work-up for making a more accurate diagnosis and administering proper treatment.

Abstract

Background : We investigated the Janus kinase 2 (JAK2) mutation and its diagnostic value in patients suffering with non BCR/ABL myeloproliferative diseases (nMPD) or other reactive conditions. Methods : We reviewed the clinical records of 83 patients who underwent bone marrow (BM) examinations with suspect of nMPD. The diagnoses of nMPD were made based on the WHO criteria since 2001 and the PVSG criteria before 2001. The JAK2 mutation was examined by PCR in 54 patients whose BM samples were available. Results : The JAK2 mutation was detected in 25 patients (46%); 12 of 26 patients with essential thrombocythemia (ET), 9 of 12 patients with polycyhtemia vera (PV), one of 7 patients with chronic idiopathic myelofibrosis (CIM) and one patient with unclassifiable MPD. Additionally, JAK2 mutation was detected in each one patient with secondary polycythemia and reactive thrombocytosis. These two patients and two other patients among the JAK2 mutated ET did not meet the WHO PV criteria due to their initial low hemoglobin levels. These patients had liver cirrhosis and hypersplenism due to Budd-Chiari syndrome (1), gastrointestinal bleeding (1) or the initial hemoglobin level was slightly below the level as provided by the criteria, but the level showed a rising pattern despite cytoreductive therapy (2). With the results of the JAK2 mutation available, 4 patients’ disease could be re-diagnosed as PV. Finally, the positive rate of the JAK2 mutation was 81% in PV, 48% in ET and 14% in CIM. The presence of JAK2 mutation closely correlated with PV (p=0.001), leukocytosis (p=0.001) and an increased cellularity of BM (p=0.024). Conclusions : The JAK2 mutation may help differentiate nMPD from secondary cytosis. Therefore, it should be incorporated into the guidelines for the nMPD work-up for making a more accurate diagnosis and administering proper treatment.

참고문헌 (50)

  1. "Chronic myeloproliferative diseases: introduction", pp.17~19 (2001), IARC Press
  2. "The JAK2 V617F tyrosine kinase mutation in myeloproliferative disorders:status report and immediate implications for disease classification and diagnosis", 80, pp.947~958 (2005)
  3. "Translocation of c-ab1 oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia", 306, pp.277~280 (1983)
  4. "Polycythemia vera", pp.32~34 (2001), IARC Press
  5. "Flandrin G. Chronic idiopathic myelofibrosis", pp.35~38 (2001), IARC Press
  6. "Flandrin G. Essential thrombocythaemia.", pp.39~41 (2001), IARC Press
  7. "Diagnostic criteria and prognosis in polycythemia vera and essential thrombocythemia", 36, pp.9~13 (1999)
  8. "Chronic myeloproliferative disorders with thrombocythemia a comparative study of two classification systems", 82, pp.148~152 (2003)
  9. "Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders", 365, pp.1054~1061 (2005)
  10. "A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera", 434, pp.1144~1148 (2005)
  11. "A gain of function mutation in JAK2 is frequently found in patients with myeloproliferative disorders", 352, pp.1779~1790 (2005)
  12. "Activating mutation in the tyrosine kinase JAK2 in polycythemia vera and myeloid metaplasia with myelofibrosis", 7, pp.387~397 (2005)
  13. "JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoietin", 74, pp.227~236 (1993)
  14. "An amino acid substitution in the Drosophila hopTum-l Jak kinase causes leukemia-like hematopoietic defects", 14, pp.1412~1420 (1995)
  15. "Identification of an acquired JAK2 mutation in polycythemia vera", 280, pp.22788~22792 (2005)
  16. "The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both", 106, pp.1207~1209 (2005)
  17. Jones AV, "Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders", 106, pp.2162~2168 (2005)
  18. "The JAK2 V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia", 106, pp.3377~3379 (2005)
  19. "The JAK2 V617F mutation in de novo acute myelogenous leukemias", 25, pp.1434~1436 (2006)
  20. "Chronic myeloproliferative disorders with thrombocythemia: a comparative study of two classification systems (PVSG, WHO) on 839 patients.", 82, pp.148~152 (2003)
  21. "Red cell mass and plasma volume measurements in polycythemia:evaluation of performance and practical utility", 104, pp.213~215 (2005)
  22. "Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis", 89, pp.1194~1198 (2004)
  23. "Budd-Chiari syndrome as the first manifestation of polycythemia vera in young women with inherited thrombophilic state:an aggressive form of myeloproliferative disorder requiring multidisciplinary management", 75, pp.396~400 (2005)
  24. "polycythemia vera with thrombocytosis mimicking essential thrombocythemia", 113, pp.213~219 (2005)
  25. "Polycythemia vera:scientific advances and current practice", 42, pp.206~220 (2005)
  26. "Chronic myeloproliferative diseases: introduction.", pp.17~19 (2001), IARC Press
  27. "The JAK2 V617F tyrosine kinase mutation in myeloproliferative disorders:status report and immediate implications for disease classification and diagnosis", 80, pp.947~958 (2005)
  28. "Translocation of c-ab1 oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia", 306, pp.277~280 (1983)
  29. "Polycythemia vera", pp.32~34 (2001), IARC Press
  30. "Chronic idiopathic myelofibrosis.", pp.35~38 (2001), IARC Press
  31. "Essential thrombocythaemia.", pp.39~41 (2001), IARC Press
  32. "Diagnostic criteria and prognosis in polycythemia vera and essential thrombocythemia", 36, pp.9~13 (1999)
  33. "Chronic myeloproliferative disorders with thrombocythemia a comparative study of two classification systems", 82, pp.148~152 (2003)
  34. "Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders", 365, pp.1054~1061 (2005)
  35. "A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera", 434, pp.1144~1148 (2005)
  36. "A gain of function mutation in JAK2 is frequently found in patients with myeloproliferative disorders", 352, pp.1779~1790 (2005)
  37. "Activating mutation in the tyrosine kinase JAK2 in polycythemia vera and myeloid metaplasia with myelofibrosis", 7, pp.387~397 (2005)
  38. "JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoietin", 74, pp.227~236 (1993)
  39. "An amino acid substitution in the Drosophila hopTum-l Jak kinase causes leukemia-like hematopoietic defects", 14, pp.1412~1420 (1995)
  40. "Identification of an acquired JAK2 mutation in polycythemia vera", 280, pp.22788~22792 (2005)
  41. "The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both", 106, pp.1207~1209 (2005)
  42. "Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders", 106, pp.2162~2168 (2005)
  43. "The JAK2 V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia", 106, pp.3377~3379 (2005)
  44. "The JAK2 V617F mutation in de novo acute myelogenous leukemias", 25, pp.1434~1436 (2006)
  45. "Chronic myeloproliferative disorders with thrombocythemia a comparative study of two classification systems", 82, pp.148~152 (2003)
  46. "Red cell mass and plasma volume measurements in polycythemia:evaluation of performance and practical utility", 104, pp.213~215 (2005)
  47. "Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis", 89, pp.1194~1198 (2004)
  48. "Budd-Chiari syndrome as the first manifestation of polycythemia vera in young women with inherited thrombophilic state:an aggressive form of myeloproliferative disorder requiring multidisciplinary management", 75, pp.396~400 (2005)
  49. "polycythemia vera with thrombocytosis mimicking essential thrombocythemia", 113, pp.213~219 (2005)
  50. "Polycythemia vera:scientific advances and current practice", 42, pp.206~220 (2005)

관련 논문AI추천

Correlations between Janus Kinase 2 V617F Allele Burdens and Clinicohematologic Parameters in Myeloproliferative Neoplasms김유경, 정순일, 정인성, 정혜라, 하정숙대한진단검사의학회 · Annals of Laboratory Medicine2012 · 제32권 제6호JAK2 V617F and Exon 12 Genetic Variations in Korean Patients with BCR/ABL1-negative Myeloproliferative Neoplasms박건, 김정태, 김혜란, 문대수, 박영진, 이영진, 장숙진, 조용곤, 최삼임대한진단검사의학회 · Annals of Laboratory Medicine2010 · 제30권 제6호한국인 본태성혈소판혈증 환자에서 JAK2V617F 유전자 변이박필환, 방수미, 서일혜, 신동복, 안정열, 유수진, 이재훈대한진단검사의학회 · Annals of Laboratory Medicine2007 · 제27권 제2호Clinical Implications of Quantitative JAK2 V617F Analysis using Droplet Digital PCR in Myeloproliferative Neoplasms공선영, 박혜인, 엄현석, 유종하, 이경주, 이미나, 이은영, 이혜원, 장명희, 장진영대한진단검사의학회 · Annals of Laboratory Medicine2018 · 제38권 제2호Prevalence of JAK2 V617F, CALR, and MPL W515L Gene Mutations in Patients with Essential Thrombocythemia in Kurdistan Region of IraqAli Ibrahim Mohammed, Aveen M. Raouf Abdulqader, Bestoon Muhammad Saeed, Goran Abdulqader, Hisham Arif Getta, Najmaddin Khoshnaw대한임상검사과학회 · 대한임상검사과학회지2021 · 제53권 제1호JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia기창석, 김선희, 김종원, 김희정, 김희진, 유은형, 장자현대한진단검사의학회 · Annals of Laboratory Medicine2010 · 제30권 제5호

이 간행물의 다른 논문 (8건)

Clinical Investigation of Cavitary Tuberculosis and Tuberculous Pneumonia김성진, 최강현, 이기만pp. 230-235Agenesis of the Dorsal Pancreas: A Case Report and Review of the Literature강호철, 김현수, 유종선, 김세종, 최성규, 정민영, 주영은pp. 236-239Diffuse Alveolar Hemorrhage Associated with Antineutrophil Cytoplasmic Antibody levels in a Pregnant Woman Taking PropylthiouracilSoo-Keol Lee, You Jung Sohn, Ah Young Kang, Yang Hyun Baek, Kyeong Hee Kim, Choon Hee Son, Doo Kyung Yangpp. 240-243Primary malignant melanoma of the lacrimal sac: A case reportSeung Min Kim, Jin Ho Baek, Jae Hyeuk Choi, Ji Hyung Nam, Yong Kuk Lee, Tae Jung Jang, 박건욱pp. 248-251Pancreatitis from Metastatic Small Cell Lung Cancer : Successful Treatment with Endoscopic Intrapancreatic Stenting우용식, 장영운, 주광로, 장린, 이정일, 장재영, 우종신pp. 256-261
원문 보기